Source: ANIMAL_MODELS

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3736
Gene Symbol: KCNA1
KCNA1
CUI: C1719788
Disease: Episodic ataxia type 1
Episodic ataxia type 1
1.000 Biomarker RGD Animal models for EA1 include Kcna1-deficient mice, which recessively display severe seizures and die prematurely, and V408A-knock-in mice, which dominantly exhibit stress-induced loss of motor coordination. 22206926

2012

Entrez Id: 3736
Gene Symbol: KCNA1
KCNA1
CUI: C1719788
Disease: Episodic ataxia type 1
Episodic ataxia type 1
1.000 Biomarker MGD A mouse model of episodic ataxia type-1. 12612586

2003

Entrez Id: 3736
Gene Symbol: KCNA1
KCNA1
CUI: C0684219
Disease: Myokymia
Myokymia
0.680 Biomarker RGD Kcna1-mutant rats dominantly display myokymia, neuromyotonia and spontaneous epileptic seizures. 22206926

2012

Entrez Id: 3736
Gene Symbol: KCNA1
KCNA1
Continuous Muscle Fiber Activity, Hereditary
0.500 Biomarker RGD Kcna1-mutant rats dominantly display myokymia, neuromyotonia and spontaneous epileptic seizures. 22206926

2012

Entrez Id: 3736
Gene Symbol: KCNA1
KCNA1
Continuous Muscle Fiber Activity, Hereditary
0.500 Biomarker MGD A mouse model of episodic ataxia type-1. 12612586

2003

Entrez Id: 3736
Gene Symbol: KCNA1
KCNA1
CUI: C2674766
Disease: Myokymia 1
Myokymia 1
0.300 Biomarker RGD Kcna1-mutant rats dominantly display myokymia, neuromyotonia and spontaneous epileptic seizures. 22206926

2012

Entrez Id: 3736
Gene Symbol: KCNA1
KCNA1
CUI: C2674766
Disease: Myokymia 1
Myokymia 1
0.300 Biomarker MGD A mouse model of episodic ataxia type-1. 12612586

2003

Entrez Id: 3736
Gene Symbol: KCNA1
KCNA1
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.280 Biomarker MGD

Entrez Id: 3736
Gene Symbol: KCNA1
KCNA1
CUI: C0242287
Disease: Isaacs syndrome
Isaacs syndrome
0.220 Biomarker RGD Kcna1-mutant rats dominantly display myokymia, neuromyotonia and spontaneous epileptic seizures. 22206926

2012

Entrez Id: 3736
Gene Symbol: KCNA1
KCNA1
CUI: C0242287
Disease: Isaacs syndrome
Isaacs syndrome
0.220 Biomarker MGD A mouse model of episodic ataxia type-1. 12612586

2003

Entrez Id: 3736
Gene Symbol: KCNA1
KCNA1
CUI: C0270824
Disease: Visual seizure
Visual seizure
0.200 Biomarker RGD Kcna1-mutant rats dominantly display myokymia, neuromyotonia and spontaneous epileptic seizures. 22206926

2012

Entrez Id: 3736
Gene Symbol: KCNA1
KCNA1
CUI: C0014556
Disease: Epilepsy, Temporal Lobe
Epilepsy, Temporal Lobe
0.200 Biomarker MGD